This is an observational, multi-center, international disease registry designed to collect longitudinal data and create a knowledge base that will be utilized to improve the care and treatment of patients with LAL Deficiency and carriers of the disorder. Participation in the Registry by both physicians and patients is voluntary. Prospective and retrospective data will be collected; data will be de-identified. Demographic, socioeconomic, clinical, and treatment data, or those deemed relevant to the management of eligible patients will be submitted to the Registry based on routine clinical practice, as determined by the patient's physician.

The objective of the LAL Deficiency Registry is to use uniform methodology to collect longitudinal data over an extended period to provide information to:

Further understand the disease, its progression and any associated complications.

Evaluate the long-term effectiveness of therapeutic and supportive interventions.

Improve care through evidence-based patient management.

Understand the relationship between LAL Deficiency and access to care.

All patients with a diagnosis of LAL Deficiency or carriers of the disorder.

Criteria

Patients must have a diagnosis of LAL Deficiency or be carriers of the disorder. Carriers must have evidence of at least one mutation in the LIPA gene, or have an affected parent or child diagnosed with LAL Deficiency. An Informed Consent and Authorization must be obtained prior to patient enrollment where required under applicable laws and regulations, or a waiver must be obtained by the Institutional Review Board/Independent Ethics Committee.

Contacts and Locations

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study.
To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below.
For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01633489